(Q33681582)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832047%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

title

A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma (English)

1 reference

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7 December 2019

3

1 reference

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7 December 2019

author name string

A M Kennan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832047%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

F C Mansergh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832047%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

T Clark

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832047%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

C Ayuso

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832047%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

P F Kenna

6

1 reference

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7 December 2019

P Humphries

7

1 reference

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7 December 2019

G J Farrar

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832047%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

language of work or name

English

0 references

publication date

1 November 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832047%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

7 December 2019

published in

1 reference

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7 December 2019

volume

35

1 reference

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7 December 2019

issue

11

1 reference

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7 December 2019

page(s)

957-960

1 reference

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Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly

7 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Recent advances in molecular genetics of glaucomas

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Identification of a gene that causes primary open angle glaucoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Molecular genetics of the glaucomas: mapping of the first five "GLC" loci.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

[Linkage between juvenile glaucoma and chromosome 1q in 2 French families]

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051493

Novel mutations in the TIGR gene in early and late onset open angle glaucoma

30 October 2018

1 reference

12 December 2020

Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees

1 reference

12 December 2020

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity

1 reference

12 December 2020

Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region

1 reference

12 December 2020

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

1 reference

12 December 2020

A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.11.957

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832047%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832047%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference